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10/10/2023  |   3:15 PM - 3:40 PM   |  6619

A Pilot Study in NYS to Perform Newborn Screening for Congenital Cytomegalovirus

Abstract Summary

Congenital cytomegalovirus (cCMV) is the most common congenital infection and the leading non-genetic cause of hearing loss in newborns. Approximately 1 in 200 newborns are born with cCMV and approximately 1 in 5 infants with cCMV develop symptoms including sensorineural hearing loss, rash, jaundice, microcephaly, hepatosplenomegaly, seizures and retinitis. Newborn screening (NBS) for cCMV is currently not mandated in NYS. However, interest in performing routine NBS for this common infection has grown. The NYS NBS program obtained funding from NICHD to screen all newborns born in NYS for a period of one year for cCMV. As part of this pilot, multiple activities were initiated: • Relationships have been established with clinicians with expertise in CMV at Specialty Care Centers, an expert advisory committee (including a Bioethicist), the NYS Early Hearing Detection and Intervention group, the NYS Division of Epidemiology, and the CDC. • Following a literature search, multiple nucleic acid extraction methods and real-time PCR assays were compared to determine the optimal method for detecting CMV DNA in dried blood spots in a high throughput setting. • All babies will be screened, and an opt-out model was established for parents to preclude cCMV status in their baby’s NBS report, regardless of the test result. • Educational materials were developed. • A referral and diagnostic testing algorithm for infants who screen positive for cCMV was established. This included accreditation of Pediatric Infectious Disease Specialty Care Centers with coverage across NYS, determination of appropriate short and long-term follow-up algorithms and plans to develop a cCMV registry for longer term follow-up. • Starting July 1st, 2023, NYS will implement a prospective NBS to identify newborns with cCMV infection, including referral of infants for confirmatory diagnostic testing, appropriate follow-up and treatment. • The aim is to screen approximately 200,000 newborns for cCMV and disseminate methods and results to the NBS community.

Learning Objectives

  • Describe the goals of newborn screening for cCMV
  • Discuss the factors associated with performing a pilot study in a newborn screen setting
  • Identify the difficulties of screening dried blood spot specimens for cCMV




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Norma Tavakoli | Primary Presenter

Norma Tavakoli, Ph.D. received a Bachelor of Science degree in Microbiology and a doctoral degree in Molecular Biology from the University of Bristol, UK. Her postdoctoral research at the Wadsworth Center involved investigating transposable elements in bacteria. As the Director of Molecular Methods Development in the Clinical Virology Program at the Wadsworth Center, Dr. Tavakoli developed molecular assays for the detection of viral pathogens and was involved in outbreak response. She became the Director of the Viral Encephalitis Laboratory in 2004. Dr. Tavakoli joined the Newborn Screening Program in 2007 and has overseen the Immunoassay Laboratory since 2010. Her laboratory performs screening for congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis and HIV and recently performed a 2-year pilot study to screen newborns for Duchenne muscular dystrophy. She has worked as a consultant for the Association of Public Health Laboratories and is an Assistant Professor at State University of NY, Albany.


Financial - Receives Grants for Other activities from NICHD.  

Nonfinancial - No relevant nonfinancial relationship exists.


Financial - Receives support for The grant for the pilot study is from National Institute of Child Health and Human Development (NICHD).